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No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk : implications for gene panel testing

dc.contributorPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
dc.creatorEaston, Douglas F.
dc.creatorLesueur, Fabienne
dc.creatorDecker, Brennan
dc.creatorMichailidou, Kyriaki
dc.creatorLi, Jun
dc.creatorAllen, Jamie
dc.creatorLuccarini, Craig
dc.creatorPooley, Karen A.
dc.creatorShah, Mitul
dc.creatorBolla, Manjeet K.
dc.creatorWang, Qin
dc.creatorDennis, Joe
dc.creatorAhmad, Jamil
dc.creatorThompson, Ella R.
dc.creatorDamiola, Francesca
dc.creatorPertesi, Maroulio
dc.creatorVoegele, Catherine
dc.creatorMebirouk, Noura
dc.creatorRobinot, Nivonirina
dc.creatorDurand, Geoffroy
dc.creatorForey, Nathalie
dc.creatorLuben, Robert N.
dc.creatorAhmed, Shahana
dc.creatorAittomäki, Kristiina
dc.creatorAnton-Culver, Hoda
dc.creatorArndt, Volker
dc.creatorAustralian Ovarian Cancer Study Group
dc.creatorBaynes, Caroline
dc.creatorBeckman, Matthias W.
dc.creatorBenitez, Javier
dc.creatorVan Den Berg, David
dc.creatorBlot, William J.
dc.creatorBogdanova, Natalia V.
dc.creatorBojesen, Stig E.
dc.creatorBrenner, Hermann
dc.creatorChang-Claude, Jenny
dc.creatorChia, Kee Seng
dc.creatorChoi, Ji-Yeob
dc.creatorConroy, Don M.
dc.creatorCox, Angela
dc.creatorCross, Simon S.
dc.creatorCzene, Kamila
dc.creatorDarabi, Hatef
dc.creatorDevilee, Peter
dc.creatorEriksson, Mikael
dc.creatorFasching, Peter A.
dc.creatorFigueroa, Jonine
dc.creatorFlyger, Henrik
dc.creatorFostira, Florentia
dc.creatorGarcía-Closas, Montserrat
dc.creatorGiles, Graham G.
dc.creatorGlendon, Gord
dc.creatorGonzález-Neira, Anna
dc.creatorGuénel, Pascal
dc.creatorHaiman, Christopher A.
dc.creatorHall, Per
dc.creatorHart, Steven N.
dc.creatorHartman, Mikael
dc.creatorHooning, Maartje J.
dc.creatorHsiung, Chia-Ni
dc.creatorIto, Hidemi
dc.creatorJakubowska, Anna
dc.creatorJames, Paul A.
dc.creatorJohn, Esther M.
dc.creatorJohnson, Nichola
dc.creatorJones, Michael
dc.creatorKabisch, Maria
dc.creatorKang, Daehee
dc.creatorkConFab Investigators
dc.creatorKosma, Veli-Matti
dc.creatorKristensen, Vessela
dc.creatorLambrechts, Diether
dc.creatorLi, Na
dc.creatorLifepool Investigators
dc.creatorLindblom, Annika
dc.creatorLong, Jirong
dc.creatorLophatananon, Artitaya
dc.creatorLubinski, Jan
dc.creatorMannermaa, Arto
dc.creatorManoukian, Siranoush
dc.creatorMargolin, Sara
dc.creatorMatsuo, Keitaro
dc.creatorMeindl, Alfons
dc.creatorMitchell, Gillian
dc.creatorMuir, Kenneth
dc.creatorNBCS Investigators
dc.creatorNevelsteen, Ines
dc.creatorOuweland, Ans van den
dc.creatorPeterlongo, Paolo
dc.creatorPhuah, Sze Yee
dc.creatorPylkäs, Katri
dc.creatorRowley, Simone M.
dc.creatorSangrajrang, Suleeporn
dc.creatorSchmutzler, Rita K.
dc.creatorShen, Chen-Yang
dc.creatorShu, Xiao-Ou
dc.creatorSouthey, Melissa
dc.creatorSurowy, Harald
dc.creatorSwerdlow, Anthony
dc.creatorTeo, Soo H.
dc.creatorTollenaar, Robert A.E.M.
dc.creatorTomlinson, Ian
dc.creatorTorres, Diana
dc.creatorTruong, Thérèse
dc.creatorVachon, Celine
dc.creatorVerhoef, Senno
dc.creatorWong-Brown, Michelle
dc.creatorZheng, Wei
dc.creatorZheng, Ying
dc.creatorNevanlinna, Heli
dc.creatorScott, Rodney J.
dc.creatorAndrulis, Irene L.
dc.creatorWu, Anna H.
dc.creatorHopper, John L.
dc.creatorCouch, Fergus J.
dc.creatorWinqvist, Robert
dc.creatorBurwinkel, Barbara
dc.creatorSawyer, Elinor J.
dc.creatorSchmidt, Marjanka K.
dc.creatorRudolph, Anja
dc.creatorDörk, Thilo
dc.creatorBrauch, Hiltrud
dc.creatorHamann, Ute
dc.creatorNeuhausen, Susan L.
dc.creatorMilne, Roger L.
dc.creatorFletcher, Olivia
dc.creatorPharoah, Paul D.P.
dc.creatorCampbell, Ian G.
dc.creatorDunning, Alison M.
dc.creatorLe Calvez-Kelm, Florence
dc.creatorGoldgar, David E.
dc.creatorTavtigian, Sean V.
dc.creatorChenevix-Trench, Georgia
dc.date2020-03-16T12:51:16Z
dc.date2020-04-15T13:30:58Z
dc.date2020-03-16T12:51:16Z
dc.date2020-04-15T13:30:58Z
dc.date2016
dc.date.accessioned2025-10-30T13:16:47Z
dc.date.available2025-10-30T13:16:47Z
dc.identifierhttps://search-proquest-com.ezproxy.javeriana.edu.co/docview/1786541751/7C9BFC75F9C472CPQ/3?accountid=13250
dc.identifier0022-2593 / 1468-6244 (Electrónico)
dc.identifierhttp://hdl.handle.net/10554/47662
dc.identifierhttps://doi:10.1136/jmedgenet-2015-103529
dc.identifier.urihttp://test.repositoriodigital.com:8080/handle/123456789/178474
dc.descriptionQ1
dc.descriptionQ1
dc.descriptionArtículo original
dc.description298-309
dc.descriptionBackground BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction. Methods We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of BRIP1 in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia. Results The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75). Conclusions These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.
dc.formatPDF
dc.formatapplication/pdf
dc.formatPapel / Electrónico
dc.formatapplication/pdf
dc.languagespa
dc.rightsAtribución-NoComercial 4.0 Internacional
dc.rightshttp://creativecommons.org/licenses/by-nc/4.0/
dc.sourceJournal of Medical Genetics; Vol. 53 Núm. 5 (2016)
dc.titleNo evidence that protein truncating variants in BRIP1 are associated with breast cancer risk : implications for gene panel testing
dc.typeinfo:eu-repo/semantics/article
dc.typehttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.typeArtículo de revista


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